20 citations
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May 2013 in “International Journal of Molecular Medicine” Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
10 citations
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December 2008 in “Molecular Carcinogenesis” The PML protein helps prevent skin cancer in mice.
4 citations
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December 2016 in “Blood” A new gene mutation may cause cyclic thrombocytopenia by affecting platelet production.
22 citations
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August 1999 in “Mechanisms of Development” Pmg-1 and Pmg-2 are new genes important for skin and mammary gland development.
33 citations
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February 2012 in “British Journal of Dermatology” Mutations in the p63 gene affect skin adhesion, barrier integrity, and hair growth.
21 citations
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May 2016 in “Experimental and Therapeutic Medicine” MMP-2 and MMP-9 help hair grow, while their inhibitors peak when hair growth slows.
2 citations
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June 2013 in “Journal of Clinical Pathology” The LMNA mutation affects skin structure even in asymptomatic carriers.
29 citations
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July 2014 in “PloS one” Meis1 is crucial for skin health and tumor development.
10 citations
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November 2009 in “Pigment cell & melanoma research” The document concludes that MGRN1 affects mouse fur color by interfering with a receptor's signaling, but its full role in the body is still unknown.
178 citations
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May 2006 in “Developmental Dynamics” Jumonji genes are important for development and their mutations can cause abnormalities, especially in the heart and brain.
March 2024 in “Frontiers in endocrinology” A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” MPZL3 is important for controlling the hair growth cycle in mice and humans.
2 citations
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January 2024 in “Revista Paulista de Pediatria” A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.
April 2023 in “Journal of Investigative Dermatology” MPZL3 protein helps control the size of oil glands and the growth of oil-producing cells in both mice and humans.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” MPZL3 protein helps keep sebaceous gland size and cell growth in check.
4 citations
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July 2022 in “The Journal of Clinical Endocrinology & Metabolism” A specific genetic mutation causes POMC deficiency, leading to symptoms like weight gain and red hair.
April 2018 in “Journal of Investigative Dermatology” The study found that p63 needs signals from morphogens to help skin cells differentiate properly.
137 citations
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October 2009 in “The American journal of pathology” Matriptase is crucial for keeping epithelial tissues healthy and functioning properly.
10 citations
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September 1997 in “Molecular carcinogenesis” Mirex seems to promote a unique group of skin cells different from those affected by another tumor promoter, TPA.
1 citations
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July 2024 in “Journal of Investigative Dermatology” MPZL3 protein affects hair growth cycles and could help manage hair loss.
221 citations
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July 2012 in “Proceedings of the National Academy of Sciences of the United States of America” BMAL1 controls skin cell growth and UV damage risk, peaking at night.
7 citations
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May 2019 in “European Journal of Human Genetics” BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.
December 2024 in “Journal of Cosmetic Dermatology” ME1 and PPAR signaling may influence hair loss in androgenetic alopecia.
November 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” Scientists made a mouse that shows how a specific protein in the skin changes and affects hair growth and shape.
11 citations
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November 2019 in “The FASEB Journal” A mutation in the MAP2 gene causes reduced hair follicle density, leading to hairlessness.
9 citations
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November 2007 in “Blood” TMPRSS6 is crucial for controlling hepcidin and normal iron absorption.
7 citations
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May 2021 in “EBioMedicine” Increased methylation of the Filip1l gene may contribute to aggressive skin cancer.
105 citations
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February 1996 in “Journal of biological chemistry/The Journal of biological chemistry” The TGM3 gene's promoter region is key for skin and hair cell function and may aid gene therapy.
December 2011 in “University of Southern California Digital Library” High BMP signaling disrupts hair growth and balance in skin cells.
70 citations
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December 2004 in “Proceedings of the National Academy of Sciences” BMP signaling affects hair color by interacting with the MC-1R pathway.